A new small supernumerary marker chromosome, generating mosaic pure trisomy 16q11.1–q12.1 in a healthy man

Por Rodríguez, Laura, Liehr, Tomas, Martínez-Fernández, María Luisa, Lara, Ana, Torres, Antonio, Martínez-Frías, María Luisa
Publicado em 2008

Molecular characterisation of a mosaicism with a complex chromosome rearrangement: evidence for coincident chromosome healing by telomere capture and neo‐telomere formation

Por Chabchoub, Elyes, Rodríguez, Laura, Galán, Enrique, Mansilla, Elena, Martínez‐Fernandez, Maria Luisa, Martínez‐Frías, Maria Luisa, Fryns, Jean‐Pierre, Vermeesch, Joris Robert
Publicado em 2007

Characterization of a 8q21.11 Microdeletion Syndrome Associated with Intellectual Disability and a Recognizable Phenotype

Por Palomares, María, Delicado, Alicia, Mansilla, Elena, de Torres, María Luisa, Vallespín, Elena, Fernandez, Luis, Martinez-Glez, Victor, García-Miñaur, Sixto, Nevado, Julián, Simarro, Fernando Santos, Ruiz-Perez, Victor L., Lynch, Sally Ann, Sharkey, Freddie H., Thuresson, Ann-Charlotte, Annerén, Göran, Belligni, Elga F., Martínez-Fernández, María Luisa, Bermejo, Eva, Nowakowska, Beata, Kutkowska-Kazmierczak, Anna, Bocian, Ewa, Obersztyn, Ewa, Martínez-Frías, María Luisa, Hennekam, Raoul C.M., Lapunzina, Pablo
Publicado em 2011

Molecular Mechanisms Generating and Stabilizing Terminal 22q13 Deletions in 44 Subjects with Phelan/McDermid Syndrome

Por Bonaglia, Maria Clara, Giorda, Roberto, Beri, Silvana, De Agostini, Cristina, Novara, Francesca, Fichera, Marco, Grillo, Lucia, Galesi, Ornella, Vetro, Annalisa, Ciccone, Roberto, Bonati, Maria Teresa, Giglio, Sabrina, Guerrini, Renzo, Osimani, Sara, Marelli, Susan, Zucca, Claudio, Grasso, Rita, Borgatti, Renato, Mani, Elisa, Motta, Cristina, Molteni, Massimo, Romano, Corrado, Greco, Donatella, Reitano, Santina, Baroncini, Anna, Lapi, Elisabetta, Cecconi, Antonella, Arrigo, Giulia, Patricelli, Maria Grazia, Pantaleoni, Chiara, D'Arrigo, Stefano, Riva, Daria, Sciacca, Francesca, Dalla Bernardina, Bernardo, Zoccante, Leonardo, Darra, Francesca, Termine, Cristiano, Maserati, Emanuela, Bigoni, Stefania, Priolo, Emanuela, Bottani, Armand, Gimelli, Stefania, Bena, Frederique, Brusco, Alfredo, di Gregorio, Eleonora, Bagnasco, Irene, Giussani, Ursula, Nitsch, Lucio, Politi, Pierluigi, Martinez-Frias, Maria Luisa, Martínez-Fernández, Maria Luisa, Martínez Guardia, Nieves, Bremer, Anna, Anderlid, Britt-Marie, Zuffardi, Orsetta
Publicado em 2011